Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	85465
Gene name	Selenoprotein I
Gene symbol	SELENOI
Synonyms (NCBI Gene)	EPT1SELISEPISPG81
Chromosome	2
Chromosome location	2p23.3
Summary	The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, whic

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs933233143	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1572337800	A>G	Pathogenic	Splice acceptor variant, intron variant

Show/Hide all (63)

miRTarBase ID	miRNA	Experiments	Reference
MIRT715558	hsa-miR-382-3p	HITS-CLIP	19536157
MIRT715557	hsa-miR-496	HITS-CLIP	19536157
MIRT159073	hsa-miR-579-3p	HITS-CLIP	19536157
MIRT159092	hsa-miR-664b-3p	HITS-CLIP	19536157
MIRT703907	hsa-miR-8080	HITS-CLIP	23313552
MIRT703908	hsa-miR-6758-5p	HITS-CLIP	23313552
MIRT703906	hsa-miR-6856-5p	HITS-CLIP	23313552
MIRT703905	hsa-miR-6783-5p	HITS-CLIP	23313552
MIRT703904	hsa-miR-1324	HITS-CLIP	23313552
MIRT703903	hsa-miR-5187-3p	HITS-CLIP	23313552
MIRT703902	hsa-miR-4533	HITS-CLIP	23313552
MIRT703901	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT703900	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT703899	hsa-miR-4271	HITS-CLIP	23313552
MIRT703898	hsa-miR-4725-3p	HITS-CLIP	23313552
MIRT703897	hsa-miR-6780b-5p	HITS-CLIP	23313552
MIRT159034	hsa-miR-3646	HITS-CLIP	23313552
MIRT703896	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT703895	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT703894	hsa-miR-3065-5p	HITS-CLIP	23313552
MIRT703893	hsa-miR-6736-3p	HITS-CLIP	23313552
MIRT688358	hsa-miR-6872-3p	HITS-CLIP	23313552
MIRT703892	hsa-miR-875-3p	HITS-CLIP	23313552
MIRT703891	hsa-miR-5093	HITS-CLIP	23313552
MIRT703890	hsa-miR-5581-3p	HITS-CLIP	23313552
MIRT703889	hsa-miR-188-3p	HITS-CLIP	23313552
MIRT703888	hsa-miR-1260a	HITS-CLIP	23313552
MIRT703887	hsa-miR-1260b	HITS-CLIP	23313552
MIRT703886	hsa-miR-3156-3p	HITS-CLIP	23313552
MIRT703884	hsa-miR-4709-3p	HITS-CLIP	23313552
MIRT688363	hsa-miR-582-3p	HITS-CLIP	23313552
MIRT688362	hsa-miR-590-3p	HITS-CLIP	23313552
MIRT688361	hsa-miR-4438	HITS-CLIP	23313552
MIRT119821	hsa-miR-5582-5p	HITS-CLIP	23313552
MIRT159048	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT688360	hsa-miR-4269	HITS-CLIP	23313552
MIRT688359	hsa-miR-6715b-5p	HITS-CLIP	23313552
MIRT688358	hsa-miR-6872-3p	HITS-CLIP	23313552
MIRT688357	hsa-miR-4735-5p	HITS-CLIP	23313552
MIRT688356	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT688355	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT688354	hsa-miR-5589-3p	HITS-CLIP	23313552
MIRT688353	hsa-miR-4775	HITS-CLIP	23313552
MIRT688352	hsa-miR-5095	HITS-CLIP	23313552
MIRT688351	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT688350	hsa-miR-4715-3p	HITS-CLIP	23313552
MIRT688349	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT688348	hsa-miR-129-5p	HITS-CLIP	23313552
MIRT545514	hsa-miR-3200-5p	PAR-CLIP	21572407
MIRT545512	hsa-miR-4267	PAR-CLIP	21572407
MIRT545513	hsa-miR-6730-3p	PAR-CLIP	21572407
MIRT545511	hsa-miR-3660	PAR-CLIP	21572407
MIRT545510	hsa-miR-4526	PAR-CLIP	21572407
MIRT545509	hsa-miR-6719-3p	PAR-CLIP	21572407
MIRT545508	hsa-miR-3117-5p	PAR-CLIP	21572407
MIRT206239	hsa-miR-6512-3p	PAR-CLIP	21572407
MIRT206240	hsa-miR-6720-5p	PAR-CLIP	21572407
MIRT159007	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT158990	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT159000	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT005265	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT159005	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT159007	hsa-miR-374a-5p	HITS-CLIP	22473208

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004307	Function	Ethanolaminephosphotransferase activity	IBA
GO:0004307	Function	Ethanolaminephosphotransferase activity	IDA	17132865
GO:0004307	Function	Ethanolaminephosphotransferase activity	IEA
GO:0004307	Function	Ethanolaminephosphotransferase activity	IMP	28052917, 29500230
GO:0004307	Function	Ethanolaminephosphotransferase activity	ISS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	28052917
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IBA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IDA	17132865
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IEA
GO:0006646	Process	Phosphatidylethanolamine biosynthetic process	IMP	28052917, 29500230
GO:0008611	Process	Ether lipid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	ISS
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0042552	Process	Myelination	IEA
GO:0042552	Process	Myelination	ISS
GO:0046474	Process	Glycerophospholipid biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
607915	29361	ENSG00000138018

Q9C0D9

Protein name

Ethanolaminephosphotransferase 1 (hEPT1) (EC 2.7.8.1) (Selenoprotein I) (SelI)

Protein function

Ethanolaminephosphotransferase that catalyzes the transfer of phosphoethanolamine (PE) from CDP-ethanolamine to lipid acceptors, the final step in the synthesis of PE via the 'Kennedy' pathway (PubMed:17132865, PubMed:28052917, PubMed:29500230).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01066	CDP-OH_P_transf	48 → 129	CDP-alcohol phosphatidyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Abundant in brain, placenta, liver and pancreas, followed by heart, skeletal muscle, lung and kidney. In brain it is strongly expressed in cerebellum, followed by the occipital pole and the frontal lobe. {ECO:0000269|

Sequence

MAGYEYVSPEQLAGFDKYKYSAVDTNPLSLYVMHPFWNTIVKVFPTWLAPNLITFSGFLL
VVFNFLLMAYFDPDFYASAPGHKHVPDWVWIVVGILNFVAYTLDGVDGKQARRTNSSTPL
GELFDHGLDSWSCVYFVVTVYSIFGRGSTGVSVFVLYLLLWVVLFSFILSHWEKYNTGIL
FLPWGYDISQVTISFVYIVTAVVGVEAWYEPFLFNFLYRDLFTAMIIGCALCVTLPMSLL
NFFRSYKNNTLKLNSVYEAMVPLFSPCLLFILSTAWILWSPSDILELHPRVFYFMVGTAF
ANSTCQLIVCQMSSTRCPTLNWLLVPLFLVVLVVNLGVASYVESILLYTLTTAFTLAHIH
YGVRVVKQLSSHFQIYPFSLRKPNSDULGMEEKNIGL

Sequence length

397

Interactions

View interactions

	KEGG		Reactome
	Phosphonate and phosphinate metabolism Glycerophospholipid metabolism Ether lipid metabolism Metabolic pathways		Synthesis of PE

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spastic paraplegia 81, autosomal recessive	Pathogenic	rs2465282305, rs1466246912, rs933233143, rs1572337800	RCV003322650 RCV003322651 RCV001003409 RCV001003410	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE COMPLEX SPASTIC PARAPLEGIA DUE TO KENNEDY PATHWAY DYSFUNCTION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	Complex Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blindness	Blindness	Pubtator	29500230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Demyelinating Diseases	Demyelinating diseases	Pubtator	29500230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	17574594, 19213079, 21132272, 24412605, 24837480, 26516161, 8606490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17574594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33408336	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	8606490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	29500230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	28052917, 29500230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	28052917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetraplegia/tetraparesis	Tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

SELENOI (selenoprotein I)